Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Increased bone mineral density (HP:0011001)

Parent Node:
Abnormal calcification of the carpal bones (HP:0009164)

Parent Node:
Sclerosis of hand bone (HP:0004054)

..Starting node
..Stippled calcification in carpal bones (HP:0004241)

Term ID:

4241

Name:

Stippled calcification in carpal bones

Synonym:

Punctate calcifications of carpals

Definition:

Point-shaped (punctate) calcifications affecting the carpal bones.

Comments:

Reference:

HP:0004241

Genes and Diseases:

Child Nodes:

Sister Nodes:

Irregular sclerosis of hand bones (HP:0004281)

Sclerosis of finger phalanx (HP:0100899)

Sclerosis of the carpal bones (HP:0500031)

Sclerotic foci within carpal bones (HP:0004240)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004241	HP:0004241	Stippled calcification in carpal bones	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0004241	HP:0004241	Stippled calcification in carpal bones	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare	7

Genes (2) :EBP SLC34A2

Diseases (2) :OMIM:302960 ORPHA:60025

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.